Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

MMAF virulence gene novel mutation and application thereof

A disease-causing gene and gene technology, applied in the field of new mutations of MMAF-causing genes, can solve problems such as unclear relationship between genotype and phenotype

Inactive Publication Date: 2017-09-19
厦门市妇幼保健院 +1
View PDF2 Cites 3 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] At present, the gene mutation spectrum of MMAF has not been fully discovered, and the relationship between genotype and phenotype is not clear

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • MMAF virulence gene novel mutation and application thereof
  • MMAF virulence gene novel mutation and application thereof
  • MMAF virulence gene novel mutation and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0212] Identify the causative gene for MMAF.

[0213] The present invention collects 27 cases of MMAF cases, all patients are infertile, and the tail deformity includes typical MMAF disease characteristics such as short tail, no tail, curly tail, bent tail and irregular tail width.

[0214] The present invention has carried out whole exome sequencing to all patients, and specific steps are as follows:

[0215] Sample preparation: Collect the peripheral blood of the patient and his parents and family members, use the kit to extract the genomic DNA in the peripheral blood leukocytes (QIAamp DNA Mini Kit 51304.Qiagen, USA), and use the NanoDrop 2000 to measure the concentration and purity of the DNA (Thermo Scientific , USA), the OD260 / OD280 of the genomic DNA of each sample obtained was between 1.7-2.0, the concentration was not less than 100ng / ul, and the total amount was not less than 30ul.

[0216] Then, the exome sequences of the above 27 samples were sequenced. The sequen...

Embodiment 2

[0225] The above-mentioned causative gene for MMAF was confirmed in other cases.

[0226] Next, the present invention includes all MMAF patients, and verifies that the DNAH1 gene is the pathogenic gene of MMAF. In the verification, the Sanger method was used to verify the mutation of the DNAH1 gene, and the verification of samples within the family, outside the family, and sporadic samples were considered.

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention discloses an MMAF virulence gene novel mutation and application thereof, and relates to virulence genes, novel mutation of an MMAF virulence gene DNAH1 is firstly found. A plurality of affected families and affected individuals of the MMAF are taken as study objects for sequencing and comparing exomes of the affected individuals in the families to find that DNAH1 genes of different patients have different gene mutations which are used for detecting various sperm tail paramorphia (MMAF).

Description

technical field [0001] The invention relates to a disease-causing gene, in particular to a novel mutation of the MMAF disease-causing gene and its application. Background technique [0002] Multiple morphological abnormalities of the sperm flagella (MMAF) is a recessively inherited teratozoospermia that causes male infertility. The sum of tail abnormalities, including short tails, tailless tails, curled tails, bent tails, and tails of irregular width. In the early research, there are also literatures calling this disease as dysplasia of the fibrous sheath (DFS), short tails, stump tails. Early researches on molecular pathogenesis in foreign countries found mutations in DNAH1 gene (1.Ben Khelifa M, Coutton C, Zouari R, Karaouzene T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D , Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Toure A, et al. Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead tomato infertility from ...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
Patent Type & Authority Applications(China)
IPC IPC(8): C07K14/47C12N15/12C12N15/11C12Q1/68G01N33/68
CPCC07K14/47C12Q1/6883C12Q2600/156G01N33/68G01N2800/34
Inventor 沙艳伟李萍李琳梅利斌黄娴静林绍彬王旭张庆邱乒乒龚秀芳
Owner 厦门市妇幼保健院
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com